Autism: What Do We Know, What Do We Need

Remarking that autism today, in terms of interest and funding, is like cancer was 20 years ago, Dr. Thomas Insel provides the latest medical and scientific views on this complex developmental brain disorder. The formal definition of autism includes three main components: deficits in social behavior, abnormal language, and repetitive or restricted (motor) behaviors (hand flapping, for instance). But it can also include a host of other associated features like seizures, mental retardation, GI disorders, dysmorphic appearance, and regression.

Insel compares talking about autism as a single disorder to talking about epilepsy or fever or chest pain as a single disorder. Discussions must include understanding details at many levels-genetic, environmental, cellular, behavioral, systems. While researchers may now increasingly refer to autisms (plural) or think of the disorder along a spectrum, these categories may cause more problems in getting to the underlying biology of the disorder. Current research suggests that autism is a developmental brain disorder, specifically a disorder of synapses.

With the completion of the human genome sequence (2003), the human common variation sequence (2005), the identification of structural variations (2007), and the epigenome mapping for environment effects (2009), researchers are now able to go far deeper into the details of genetic influence. Scientists are not searching for a diagnostic marker, rather they are looking at autism's pathophysiology-how to use genetics to understand the biology of the illness. A group of cells called "mirror neurons" appear to have the potential to help better understand the theory of the mind and may be important in explaining imitation and understanding other's experiences. Supported by the underlying genetic information, the study of cell biology will be better able to determine which cells are affected and when, thus providing ways to create interventions.

But genetics can explain only a portion of autism's presence. Another area of study that is increasingly getting attention is microbiomics, the study of microbes that have entire ecological systems inhabiting our bodies, internally (as part of our genes) and externally (face, ears, mouth). There are also significant environmental factors that may also contribute-of 80 thousand toxicants in the world, 201 are considered potential neuron"toxicants, and of those, only 5 have been studied with any rigor.

Technological developments in neuroimaging, which can provide information from deep within the brain, have not yet provided a "smoking gun." Though no regional changes or lesions have been found in the autistic brain, imaging feedback clearly has the potential for showing important connectivity within the brain and how different brain areas are activated.

After noting the diverse paths that science is pursuing in search of explanations for autism, Insel concludes that "we need much more than we currently know." He emphasizes that the immediate needs include bio"markers for early detection, pre"emptive interventions, and personalized treatments.

About the Speaker(s): Thomas R. Insel, M.D., is Director of the National Institute of Mental Health (NIMH), the component of the National Institutes of Health charged with generating the knowledge needed to understand, treat, and prevent mental disorders. His tenure at NIMH has been distinguished by groundbreaking findings in the areas of practical clinical trials, autism research, and the role of genetics in mental illnesses.

Prior to his appointment as NIMH Director in the fall of 2002, Dr. Insel was Professor of Psychiatry at Emory University. There, he was founding director of the Center for Behavioral Neuroscience, one of the largest science and technology centers funded by the National Science Foundation and, concurrently, director of an NIH"funded Center for Autism Research. From 1994 to 1999, he was Director of the Yerkes Regional Primate Research Center in Atlanta. While at Emory, Dr. Insel continued the line of research he had initiated at NIMH studying the neurobiology of complex social behaviors. He has published more than 250 scientific articles and four books, including the Neurobiology of Parental Care (with Michael Numan) in 2003.

Dr. Insel has served on numerous academic, scientific, and professional committees and boards. He is a member of the Institute of Medicine, a fellow of the American College of Neuropsychopharmacology, and is a recipient of several awards including the Outstanding Service Award from the U.S. Public Health Service. Dr. Insel graduated from the combined B.A."M.D. program at Boston University in 1974. He did his internship at Berkshire Medical Center, Pittsfield, Massachusetts, and his residency at the Langley Porter Neuropsychiatric Institute at the University of California, San Francisco.

Host(s): School of Science, Simons Initiative on Autism and the Brain at MIT

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